Canonical Allele Identifier: CA2406464737
Community Standard Title: NM_004599.4(SREBF2):c.2208+414A=
Gene: SREBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41885425A= , CM000684.2:g.41885425A= GRCh38
NC_000022.10:g.42281429A= , CM000684.1:g.42281429A= GRCh37
NC_000022.9:g.40611375A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004599.4:c.2208+414A= MANE Select NP_004590.2:n.2208+414A=
ENST00000361204.9:c.2208+414A= MANE Select ENSP00000354476.4:n.2208+414A=
NM_004599.3:c.2208+414A= NP_004590.2:n.2208+414A=
NR_103834.1:n.2500+414A=
NR_103834.2:n.2474+414A=
ENST00000361204.8:c.2208+414A= ENSP00000354476.4:n.2208+414A=
ENST00000424354.5:c.*253+414A= ENSP00000395728.1:n.*253+414A=
ENST00000612482.4:c.*253+414A= ENSP00000484441.1:n.*253+414A=
ENST00000710853.1:c.2118+414A= ENSP00000518526.1:n.2118+414A=
XM_006724310.1:c.2118+414A= XP_006724373.1:n.2118+414A=
XM_006724310.3:c.2118+414A= XP_006724373.1:n.2118+414A=
XM_011530347.1:c.1833+414A= XP_011528649.1:n.1833+414A=
XM_011530347.2:c.1833+414A= XP_011528649.1:n.1833+414A=
XM_017028921.2:c.2208+414A= XP_016884410.1:n.2208+414A=
XM_017028922.2:c.2208+414A= XP_016884411.1:n.2208+414A=
XR_001755276.2:n.2351+414A=
XR_001755277.2:n.2351+414A=
XR_001755278.2:n.2474+414A=
XR_938277.1:n.240A=